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Oh god hold my hand.

(284 Posts)
OpheliasWeepingWillow Wed 12-Dec-12 16:04:04

Am in Asia and about to sleep but neurologist says dd who is in hospital (10 months) has delayed brain development. This is in conjunction with failure to thrive and a flatlining curve. They are looking at metabolic and genetic disorders and I am beside myself. Couldn't find Special Needs on my stupid phone.

Spinal tap tomorrow I think.

So scared. She is my world.

QODRestYeMerryGentlemen Wed 12-Dec-12 16:05:07

((((Holding your hand))))

hellhasnofurylikeahungrywoman Wed 12-Dec-12 16:06:33

Holding your hand tightly.

JKSLtd Wed 12-Dec-12 16:06:39

And me.

I have ds2 with delayed development now nearly 5 and doing very well at an sn sch. Hope that tests lead to some answers for you.

MammyKaz Wed 12-Dec-12 16:07:51

Giving your hand a big squeeze Ophelia.

It must be really worrying. The waiting to see what's wrong is often the hardest part. I hope you get some answers fast. Sending lots of wellness vibes to both DD & you.

Lougle Wed 12-Dec-12 16:09:27

www.mumsnet.com/talk/Special_needs - hand holding wherever you post.

Lougle Wed 12-Dec-12 16:10:12

www.mumsnet.com/Talk/special_needs that link again, sorry.

minmooch Wed 12-Dec-12 16:13:36

Holding your hand here too. I hope that you get some answers soon. I hope also that you have some RL support too.

<some more hand holding>

BeaWheesht Wed 12-Dec-12 16:24:52

Thinking of you

cappucinogirl4 Wed 12-Dec-12 16:26:15

Hand holding here in West Yorkshire.Hope you get some answers soon.

bishboschone Wed 12-Dec-12 16:28:31

We are going through a similar thing .. It's very scary .. We can hold hands together.. - holds out hand --

Hand holding from us in Scotland xx

bishboschone Wed 12-Dec-12 16:32:07

That wasn't supposed to be crossed through sorry blush

holding hand from Liverpool. Hope you get some answers soon. x

dikkertjedap Wed 12-Dec-12 19:41:22

Holding your hand.

Wishing you lots of strength after all what you have already been going through.

<hugs>

Hugs.

dm1mum Wed 12-Dec-12 20:55:43

Thinking of you. I hope you have some RL support there and that you find out more soon.

Pantofino Wed 12-Dec-12 20:57:09

Holding your hand too. Hope you soon find out what you are dealing with and can put some positive action into place.

Minichristmas Wed 12-Dec-12 20:59:16

Lots of people thinking of you. Praying it goes well. Hug

Hand holding, sending lots of strength <hugs>

JustFabulous Wed 12-Dec-12 21:05:57

I am such a wuss. Teary at all you lovely women offering support.

OP, I hope things aren't as bad as you fear and that your DD is okay.

marriedandwreathedinholly Wed 12-Dec-12 21:08:13

With love and prayers. At 7 months ds wasn't thriving and had had four hospital admissions for respiratory probs. He had all the symptoms of cystic fibrosis and although the sodium test was -ve he was referred to the Royal Brompton for further tests.

He is almost 18 and 6'2" so sometimes these things are not as bad as one thinks or as the doctors say.

Fingers and toes crossed OP. Good luck. Come back and back so we can carry on holding your hand. xxxxxx

Squiglettsmummy2bx Wed 12-Dec-12 21:09:07

Hugs x

kasbah72 Wed 12-Dec-12 21:17:08

More hand holding from here.

AlienRefucksLooksLikeSnow Wed 12-Dec-12 21:20:16

Hand holds and hugs all round love, you will soon have some answers and you can work from there, you will feel so much better when you know what's going on. Sending positive thoughts to you and your DD x

OpheliasWeepingWillow Thu 13-Dec-12 00:07:17

Thank you everyone. Morning here now and am giving her breakfast. She eats loads but still failing to thrive. No one can work out why.

Scared.

DH flies in today.

ChippingInAWinterWonderland Thu 13-Dec-12 00:10:40

Here's my hand x

Do you live there?

I hope you get some answers soon, it's always much easier to deal with something when you know what that something is
x

OpheliasWeepingWillow Thu 13-Dec-12 01:39:46

I don't live in the country where we are in hospital so just me and dd here sad

Basically we moved from one Asian country to another but two days after we arrived had to take her as emergency to Thailand where I am now. At least there is a Starbucks in the hospital.

Poor baby. Eating like a tiny horse and stick thin. Nurses are lovely though.

Am also trying to work part time at the same time with one hand on iPhone. Is probably all gibberish

imogengladhart Thu 13-Dec-12 01:47:11

Message withdrawn at poster's request.

deXavia Thu 13-Dec-12 01:48:02

Hand holding and in your time zone - there are quite a few of us over here. Will keep checking back if you need to chat

ChippingInAWinterWonderland Thu 13-Dec-12 01:49:19

Oh that's horrible sad

What is the standard like at the hospital?

What were DD's symptoms that made you take her in?

How long before DH arrives??

<HUG>

Thinking of you this morning. Are you in BKK? You should get good care.
X

OpheliasWeepingWillow Thu 13-Dec-12 03:45:57

Am at Bumrungrad. Is like the Hyatt.

They just asked me if I was sure dd has 600ml a day and maybe they will do an NG tube to check. Almost kicked the doctor. I devote my life to feeding this tiny minx. Gah. Will ask for an observer in the corner of the room perhaps.

NG will not happen on my watch as she has severe oral aversions. Also they would only give 600ml through tube!

<head on bed>

OpheliasWeepingWillow Thu 13-Dec-12 03:47:29

chipping curve flatlined and head not growing plus feeding difficulties

twolittlebundles Thu 13-Dec-12 04:41:36

hand here too- I'm in NZ so am about for a few more hours yet.
I hope you are getting some rest. It's awful when the doc's question you, but they are trying to rule things out. Good on you for refusing the NG.

OpheliasWeepingWillow Thu 13-Dec-12 05:28:24

I feel a bit sorry for the coordinating doctor as am a bit strident in pushing for answers. They are baffled. All tests negative aside from brain.

Is weird as the only thing she cannot do at 10 months is pull herself up. She says mama, dada, creeps, sits, feeds herself when she feels like it, is very social and holds her water bottle.

Is only 7kg though. Teeny.

Researching metabolic disorders on Dr Google has me in a horrible flap.

Nephrologist, neurologist and ped coming this afternoon again.

Spinal tap tomorrow.

twolittlebundles Thu 13-Dec-12 05:36:45

I suppose the good thing is that they are well resourced and you are likely to get some thorough tests- though I bet the idea of having your beautiful girl undergo all of them is close to unbearable. I bet she is getting some wonderful hugs from you right now.

deXavia Thu 13-Dec-12 05:39:46

Such a worry but be careful with Doctor Google as it can lead you down some dodgy paths. I know do many different tests are trying but hopefully they'll show up the problem. What about you and your family are you teeny by nature? 10 months is so very young to judge. Although obviously there were enough signs to drive you to the hospital in the first place.
<<Sits down, offers tea and a couple of trashy magazines as distraction from Dr Google>>

AlienRefucksLooksLikeSnow Thu 13-Dec-12 05:42:21

Morning ophelia yes, the tests will be horrible, but you will get answers eventually, try and be patient with the docs, while sticking to your guns, they need to check every possibility if theyre baffled. I know the feeling, had similar when my DD was in NICU, they kept asking if I took drugs??!!

Give our virtual hands a hard squeeze when ever you feel the need, will be thinking of you and your little fighter today.

How is the day progressing?
Hope she not too uncomfortable and your DH arrived safely.
X

bishboschone Thu 13-Dec-12 07:34:15

I think 10 months is too young too. My ds is 16 months and cant pull up yet ( hence tests) .

DeckTheHallsWithBoughsOfBolly Thu 13-Dec-12 07:42:07

Holding your hand, one of us will be here no matter what time. Keep strong for her

ChasedByBees Thu 13-Dec-12 08:36:12

Thinking of you xx

Bunbaker Thu 13-Dec-12 08:49:16

"Is weird as the only thing she cannot do at 10 months is pull herself up."

She sounds quite advanced. DD wasn't doing all those things at 10 months - she was only just sitting up on her own. She started pulling herself up at 12 months and walking unaided at 16 months. She developed normally, just not as early as some other babies.

Good luck with the tests. Will they be looking for coeliac disease and allergies?

My Wilf had loads of tests done when he was smaller and i know how stressful it can be.............Sending you hugsssss ((())))

JugglingMeYorkiesAndNutRoast Thu 13-Dec-12 09:05:41

Hugs to you tiger Mama !

Hope you and the docs and nurses together can do a great job for your DD thanks

Also in Asia and holding your hand. Thai hospitals are among the best in the world so they will do absolutely every test under the sun. What hospitals in Asia tend not to be great at is bedside manner so although you will get first rate medical care, the fluffy, hand holding side may be less obvious than in the uk.

Let us know how you are getting on, take care x

seeker Thu 13-Dec-12 09:19:13

She sounds pretty advanced developmentally to the untrained me! I'm sure most babies can't do all of that at 10 months- certainly most aren't talking at all, surely.

Just make sure you're not being caught up in a railroad of interventions- there may be issues, of course, but some people are just tiny.

Startail Thu 13-Dec-12 09:20:40

Hand holding from the very pretty very frosty midlands.

ThursdayWillBeTheDay Thu 13-Dec-12 09:22:46

Thinking of you from Italy as well. Hope your husband has arrived and you get some reassuring news soon. xx

starfishmummy Thu 13-Dec-12 09:32:57

Hand holding from me too (sorry it's a bit cold though).
Be strong for your little one.

dikkertjedap Thu 13-Dec-12 09:33:10

Never forget, at this age the tests are horrible for you and probably stay with you the rest of your life, but as others have said, they are necessary to get the answers you need. However, your LO will forget about the tests. My dd had many, she really does not remember a thing. When she sees some of the photos when she was in hospital she doesn't even know it is her.

I very much you get some answers soon, the uncertainty is one of the worst bits I think as you are left in limbo.

Good that your DH is flying in so you won't be on your own. Any chance of your DM coming over to support you?

Thinking of you.

ChippingInAWinterWonderland Thu 13-Dec-12 09:38:45

How has your day progressed?

Has DH arrived?

I'm glad you are in a nice hospital, being somewhere clean and organised makes you feel so much safer and a little less vulnerable. (Starbucks is always a bonus!).

Thinking of you
x

tangledupinpoo Thu 13-Dec-12 09:51:30

Thinking of you here too, Ophelia. My ds1 failed to thrive and was eventually diagnosed with a rare growth/metabolic disorder. It is such a worrying, frightening time. (He is now a thriving school boy - but that doesn't help you at the moment.) I would say, never feel worried about being demanding of the doctors. I am generally a people-pleaser but I learned to gently insist, quite a lot, until I got answers or action. Thinking of you and your dd lots today.

pictish Thu 13-Dec-12 09:54:16

Another hand holder here. I certainly hope you get the answers you need and soon. How worrying for you. xxx

OpheliasWeepingWillow Thu 13-Dec-12 09:59:03

tangled how have you managed the disorder?

She just refused a feed as too tired and I feel awful as we need to get two more full feeds in her today. Not sure when to wake her up.

Apparently genetic and metabolic specialist will see us Sunday then we can go away and wait for results sad

She is being SO perky but I am cutting my fear of flying Xanax in half and taking twice a day to keep on top of THE DOOM.

DH here but he is at the desk working so am still just pacing about with dd prodding her little ribs hoping she will get fatter somehow

Ironically I thought she was advanced for her age developmentally. shows what I know

OpheliasWeepingWillow Thu 13-Dec-12 10:00:23

dikkert my DM is disabled but we fly to Europe next week I hope for Xmas. Fingers crossed.

OpheliasWeepingWillow Thu 13-Dec-12 10:02:14

butterflies the nurses are so so nice. The doctors slightly inscrutable but I don't mind that. I must come across as a gorgon TBH. All Unbrushed hair and demanding answers.

OpheliasWeepingWillow Thu 13-Dec-12 10:04:03

Test results in for allergies - none aside from egg white. No CF, no CPMI, no celiac, normal levels of everything except raised protein.

It's a mystery.

TwistedTinsel Thu 13-Dec-12 10:08:56

Hand holding from the frozen wastes of Scotland here. I can't imagine what you are going through. ((hugs))

FanjoTimeMammariesAndWine Thu 13-Dec-12 10:08:57

<hugs> Have been in exactly the same position, it is very hard..DD's tests were eventually clear but it was hard...try not to Google or you will waste energy worrying about things she doesn't have! Hope you get answers soon

tangledupinpoo Thu 13-Dec-12 10:22:42

It sounds like my ds's disorder is a bit different as one of the hallmarks of it is normal head circumference (so cos they're so tiny, head looks quite big) but some of the things you say about your DD are quite similar. But for ds, he had NG tube feeding from 7 months, then gastrostomy at 16 months. Now at 5, he is 'learning to eat' again, and for the past year and a half, we have been reducing the feeds very very slowly, and encouraging eating. (Ha! I make it sound so easy.) Most children with his condition need growth hormone at some point but DS hasn't needed it yet - the extent of his condition is termed quite mild <laughs bitterly>. The extreme response to illness and food refusal didn't/doesn't feel very mild.

Thing is with DS's condition, it's a very subtle genetic mistake - and they're still working to understand it, so his particular glitch has only just been pinpointed, and he's 5. (Around 50% of children with his condition are only clinically diagnosed) I wonder whether for some other metabolic conditions, the same is true?

Sounds like you're in the right place, and seeing all the right people (geneticist, endocrinologist), so I really hope you get some answers, and that they are reassuring, soon.

seeker Thu 13-Dec-12 10:22:44

"Ironically I thought she was advanced for her age developmentally. shows what I know"

Ophelia- I know that I have no medical training or anything, but she does sound advanced developmentally- what are they basing the developmental delay thing on?

Anyone around who knows more about this?

JugglingMeYorkiesAndNutRoast Thu 13-Dec-12 10:27:38

Certainly knowing a few words like mama and dada at 10 months does seem good to me ?

FanjoTimeMammariesAndWine Thu 13-Dec-12 10:28:27

BTW head circumference measuring is notoriously inaccurate..we were told my DD had microcephaly several times and she actually does not and has quite a big head.

tangledupinpoo Thu 13-Dec-12 10:33:01

Worried I sounded a bit doom and gloom in my last thread. I should also say my ds is the sparkiest, brightest, little boy. He has been stoic in the face of all his illness and discomfort. He is so funny and lyrical, and I love his take on the world. When I look at him now, my one wish is that I had not spent his early years with that constant gnaw of worry in my gut. (But I do think it was totally natural to worry.)

tangledupinpoo Thu 13-Dec-12 10:33:39

post not thread

hazeyjane Thu 13-Dec-12 10:39:02

She does sound developmentally, well within the milestones, if not a little advanced!

Testing started with ds when he was 10 months old, so young, but at this age he was unable to sit, roll, hold head up, babble, play with toys - he was assessed as being at the level of 1-3 months old.

Has she gone down the centiles curve? Dd1 started on 50th and by 10 months was on the 2nd centile (she was about 7.2 kg), she is still smallish now (she is nearly 7) and it has emerged that she has reflux and possible food intolerances, but is otherwise fine.

Hope things going ok at hospital.

deXavia Thu 13-Dec-12 12:00:02

Checking in as we reach evening here in Asia - hopefully your DH has now arrived, and you've got another feed into that lovely girl of yours.

Alibabaandthe40nappies Thu 13-Dec-12 12:12:36

She does sound advanced developmentally, honestly she does.

I can really see how her size is worrying though.

Can you pay for a private appointment with a paed. while you are in the UK over Christmas?

MrsMushroom Thu 13-Dec-12 12:16:53

I'm here too...not because I know a thing about your worries but because I know how hard it is to be in a foreign country with DC....i hope you're getting some sleep and feel ok.

OpheliasWeepingWillow Thu 13-Dec-12 12:20:33

She's had 500ml today and hoping for another feed. It's 30cal an oz formula so e.g 600ml is equivalent to 900ml 'normal' formula. They want to see if makes a difference but she needs to drink it first!

Anyway, we are all napping and hoping for feeds a bit later

Without tears. Including mine...

narmada Thu 13-Dec-12 12:22:58

Oh ophelia's, I am so sorry you are going through this.

I have been through something similar and it is awful. My son was tested for SMA when he was just weeks old and it was the hardest thing I have ever had to go through. He however was oblivious, even to the blood and nerve conduction tests.

In the end he was all clear.... and this was after the paed saying she was almost sure it 'wasn't nothing'. Well, it was nothing. He is now fine.

I hope you have a similar outcome.

narmada Thu 13-Dec-12 12:26:20

I am glad she's drinking - 900 ml a day is not bad going: it's certainly a lot more than my friend's little girl took. When she was at her worst (around 6-18 months) she was down to about 15 oz a day (that's about 450ml) although I think that was fortified too. I know they had this daily target of 20 oz and it was such a struggle for everyone and hardly ever met.

narmada Thu 13-Dec-12 12:26:58

Oh, and my friend's DD is fine now at 2.5: constitutionally very teeny but healthy and meeting all milestones.

OpheliasWeepingWillow Thu 13-Dec-12 13:10:12

Oh thank you for all the positive stories and messages. My cortisol levels must be sky high.

Deep breathe.

DH trying to feed her now. am pacing corridor outside like a loon

What if it's something fatal? What if she never grows up?

I can deal with delay. I can deal with special needs. I cannot deal with the thought of her dying.

narmada Thu 13-Dec-12 13:25:10

Re. cortisol levels, yes, I can imagine. All I can say is, keep taking the Xanax.

I would echo what others have said, though: if they are making subjective judgements on the issue of her development, then this is surely very open to interpretation.Y ou as a parent know her best and know what she's capable of.

Have they done MRI? Is that what the concerns about her brain development are based on? Or is it a crude head-size measurement? If so, check out your own and DH's head size. Our DD was deemed to have a too-small head only for me to measure mine and discover I had an equally pea-sized one smile Who knew, it's not something I'd ever noticed.

Wishing you the best of luck.

narmada Thu 13-Dec-12 13:27:38

Finally, and I am very sure they will have done so, but has your DD been checked for cardiac issues? these can be associated with delayed development and faltering growth, and are often curable.

EnjoyResponsibly Thu 13-Dec-12 13:36:38

Another hand holder OP.

<rattles Xanax bottle in time to Jingle Bells>

Stay strong xx

OpheliasWeepingWillow Thu 13-Dec-12 13:37:35

Cardiac tests done, and it's just that her head growth has stalled. My DH and I have massive heads like Easter Island.

Her brain showed development to 7 month level in grey and white matter. Neurologist coming in next half an hour. She is watching Iggle Piggle smile

OpheliasWeepingWillow Thu 13-Dec-12 13:38:49

Thanks enjoy smile

narmada Thu 13-Dec-12 14:01:31

Let us know what he says. I hope it's good news.

dm1mum Thu 13-Dec-12 14:02:15

Good luck with the neurologist. Hope that you start to get some answers x

JKSLtd Thu 13-Dec-12 15:05:49

Good luck with the neurologist smile

Curtsey Thu 13-Dec-12 16:03:42

another hand here from one with a 10-month DD. Yours sounds so lovely. Thinking of you.

QODRestYeMerryGentlemen Thu 13-Dec-12 16:09:16

Thinking of you still

narmada Thu 13-Dec-12 16:19:45

I have just read back over your messages. She says mama and dada to the correct person, at 10 months of age ?!!?!?!?! My son did not correctly use those terms until he was nearly two years of age, did not crawl until 11 months, could not pull up until about 13 months, and did not walk until 17 months. And he is, to the best of our knowledge, neurotypical.

seeker Thu 13-Dec-12 18:10:28

Narmada, that was worrying me too. I asked what made them suspect developmental delay, but my question got lost in the crowd.

FanjoTimeMammariesAndWine Thu 13-Dec-12 18:11:24

I think she said the MRI scan showed the grey and white matter in her DD's brain had only developed to a 7 month old level. They weren't talking about milestones.

JugglingMeYorkiesAndNutRoast Thu 13-Dec-12 18:22:46

Then again her DD is only 10 mths and am wondering whether there would be much physical difference with a 7 mth old's ? Just speculating, I don't know much about it.

dikkertjedap Thu 13-Dec-12 20:12:06

How did it go with the neurologist?

You know that you can always look for a second opinion when you are in the UK, although to be seen quickly you probably would need to go private if at all possible.

Thinking of you.

milkybrew Thu 13-Dec-12 20:26:44

OP was your daughter born in the UK? If so, did she have the newborn screening heel prick tests at a few days old?

Shinyshoes1 Thu 13-Dec-12 21:28:01

Hand holding from me xx

marriedandwreathedinholly Thu 13-Dec-12 22:19:54

Still holding your hand. x

twolittlebundles Thu 13-Dec-12 22:40:34

Still here too.

OpheliasWeepingWillow Thu 13-Dec-12 23:00:45

Hallo everyone. <sleepy wave>

Sitting here in dark waiting for dd to wake up. Neurologist came late last night and said most likely explanation (for him) is a genetic issue rather than an Inborn Error of Metabolism. The latter would be a horrible diagnosis so I hope the metabolic doctor agrees.

I just want to know what is wrong.

He examined her again and she waved hello! He can cancelled the lumbar puncture as he thinks 'she looks too good' to have metabolic disease. I hope so.

Another day trying to feed her ahead. Sorry if I miss questions - will try and address. X

OpheliasWeepingWillow Thu 13-Dec-12 23:01:41

Heel prick test not done as she was born in Asia. Some tests not routine in China.

OpheliasWeepingWillow Thu 13-Dec-12 23:03:51

seeker narmada a slight loss of muscle tone and head not maintaining curve made them do MRI. Also I think they wanted to rule out tumours (?)

narmada Thu 13-Dec-12 23:26:29

Well, I think that is good news ophelia, relatively speaking.It would be great if an IEM could be ruled out. I hope with my whole heart it is discounted, and soon.

I am not medically trained but it occurred to me that babies rend to grow in fits and starts. I wonder whether she is due a growth spurt.

Remember- and these are words of wisdom from my lovely GP - paeds see a skewed population and deal mostly with low-frequency conditions. They tend to seriously err on the side of caution and want to rule things out.

I hope you get some answers soon. If not, have you the means to fly back to UK and be seen by GOSH?

Is your husband there now?

twolittlebundles Thu 13-Dec-12 23:28:55

Hoping the neurologist is right then, and that the feeding goes well today. I hope they give you some positive news. Did you get any sleep?

TalkativeJim Thu 13-Dec-12 23:31:13

Thinking about you and your DD, OP. Take care x

milkybrew Thu 13-Dec-12 23:37:49

I hope you get a definitive diagnosis soon OP-waiting it such an anxious time. My LO has a metabolic condition, which was why I asked about the heel prick tests. Hope you have an easier day with feeding today and some results soon.

BitBewilderedChristmasTree Thu 13-Dec-12 23:39:30

Another and to hold. She sounds lovely!

BitBewilderedChristmasTree Thu 13-Dec-12 23:41:32

Hand! It's a hand!

tangledupinpoo Fri 14-Dec-12 00:01:53

The neurologist's opinion sounds relatively positive, Ophelia? So hard for you going through this. Still thinking of you and offering a hand. Hope today is ok for you and DD.

ChippingInLovesChristmasLights Fri 14-Dec-12 00:13:41

Just to let you know I'm still thinking of you all.
x

Good morning, hope you had some sleep and that she feeds well today, thinking of you.

Just had a few thoughts after reading your OP again:

1) I agree with all others that she seems alert for her age. Which neurologist initially diagnosed brain development delay? based on what and why did he send you for more test as an emergency?
What do the doctors now say about this sense of "emergency"?
I hope you got re-assurance and that it was maybe (a very understandable) overreaction to being in a country with limited medical facilities and that they want to err on the side of caution.

2) How is the weaning going? Is she still only having milk? Are you worried solids will interfere with her milk intake? What do the Drs says about it?

Sorry don't mean to be intrusive and hope you get some reassurance today.

x

OpheliasWeepingWillow Fri 14-Dec-12 01:02:41

laptop he was not checking for delay - think he was checking for structural abnormalities that would account for lack of overall physical growth.

I thought drs were being alarmist to admit but consulted the CMO at a large American hospital, a German doctor and a chap at the Portland. They all said - weird weird weird growth pattern despite large calorie intake.

She is on solids as well as milk.

Diagnosis remains mysterious.

OpheliasWeepingWillow Fri 14-Dec-12 01:04:58

narmada yes is totally possible for us to go private and see GOS but opted for all tests here in Asia as we are fully insured here. There may be some genetic and chromosomal tests they cannot do here though.

Really hoping it's not an IEM.

OpheliasWeepingWillow Fri 14-Dec-12 01:05:39

Am very grateful for all your hands

OpheliasWeepingWillow Fri 14-Dec-12 01:33:35

Sorry drip feeding - she was referred for her reflux and a gastrostomy as thought she was not eating enough but nutritionist and gastroenterologist suspected something more sinister. Hence the tests.

Turns out the reflux is a red herring. Although still gagging on bottles and generally being a nightmare to feed at times. It's gone from being the biggest worthy to the least!

SantaFlashesHisBoobsALot Fri 14-Dec-12 01:48:29

Hand holding, hugs and coffee from me. x

OpheliasWeepingWillow Fri 14-Dec-12 01:54:50

Thanks Santa

Love the name!

MrsMushroom Fri 14-Dec-12 03:26:20

It sounds very positive so far Ophelia and they sound VERY thorough....it must be an unimaginable strain but you know they are checking her very thoroughly at least.

"She looks too good" for it to be metabolic sounds great. xxx

OpheliasWeepingWillow Fri 14-Dec-12 05:41:35

Thanks mushroom

So, weirder and weirder.

So far despite dd having strangest growth curve nothing has been found aside from brain development issue.

In four days we have seen:

Gastroenterologist
Neurologist
Nutritionist
Phrenologist
Occupational Therapist
Allergist

The only one left is the geneticist / metabolic doctor which is Sunday so we are being discharged and will go sit in a hotel room somewhere for two days.

All signs point to genetics and I don't even want to start googling that....

Will be good to sleep in a real bed rather than a hospital sofa.

Thank you everyone. Will see what specialist on Sunday comes up with.

MrsMushroom Fri 14-Dec-12 06:08:10

There are a multitude of genetic problems and many are not serious...as others have said, she seems pretty advanced developmentally...she's alert, happy....they're certainly leaving no stone unturned!

I wonder if you'd have been seen by that diverse a bunch of "ologists" in the Uk in such a short space of time! Somehow I doubt it!

I hope Sunday goes well....I wonder if it would help to know that

WankbadgersBauble Fri 14-Dec-12 06:23:06

<holds hand from WA>

OpheliasWeepingWillow Fri 14-Dec-12 06:26:16

mrsmushroom

It's amazing what great medical insurance can do isn't it? I have been astonished at the amazing care. All the drs have experience and training from Europe or America and all have perfect English. Facilities state of the art.

In a way I am glad we are in Asia but so far from family sucks sad

Watching dd hug her teddy while they did a blood test this morning was a low point. Brave little thing.

OpheliasWeepingWillow Fri 14-Dec-12 06:29:47

Thank you wankbadger

lunar1 Fri 14-Dec-12 06:58:15

Thinking of you and dd from Manchester.

JustFabulous Fri 14-Dec-12 07:41:50

i CAN FEEL YOUR LOVE AND WORRY FOR YOUR dd THROUGH (sorry) the screen.

I really hope you get some answers on Sunday.

DD had problems and it took months to sort because the GP was crap. Thankfully someone at DH's work had a child with a similar issue so was able to advise us and 2 days later we were in Harley Street with DD being treated.

<sends hugs for you all and a cuddly teddy for DD>

WandaDoff Fri 14-Dec-12 07:47:42

Thinking of you all xx

Bunbaker Fri 14-Dec-12 08:37:54

I know what it is like to watch your child going through a barrage of tests that prove inconclusive. Lots of hugs and hand holding from me as well.

dikkertjedap Fri 14-Dec-12 09:04:42

I was just thinking that if you wanted to seek a second opinion privately whilst you are in the UK you (or ideally family or a friend here in the UK) should already set up some appointments for you.

Several Great Ormond Street Hospital doctors also work at the Portland Hospital, so if you have to pay yourself anyway, I would set up an appointment at the Portland Hospital so you know for sure there is an available slot (X-mas period may be busier due to less doctors). They are very well resourced (short waiting times, tests done quickly IME, although I have never been there during the X-mas period).

Thinking of you, hoping you get the answers you need and some reassurance.

OpheliasWeepingWillow Fri 14-Dec-12 10:49:20

Thanks dikkert

I keep on bursting into tears randomly.

Bah sad

pictish Fri 14-Dec-12 10:56:00

Bless you Ophelia I'm certain anyone else here would be exactly the same. I know I would.

JKSLtd Fri 14-Dec-12 11:17:52

Still thinking of you. When DS2 was in and out of hosp it felt so surreal, and crying was very common. Remember to keep looking after yourself, eating, sleeping, fresh air, etc.

It's good news that things are being ruled out. Hope that some answers are found soon for you all though.

NestOfWipers Fri 14-Dec-12 14:27:34

Hardly surprising my love - hang in there. Hopefully they will find something soon, something very small and easily fixable! x

OpheliasWeepingWillow Fri 14-Dec-12 14:31:46

My DH says he is more worried about me than about dd! Ridiculous. But she is so lovely and took 10 years to conceive. I have to pinch myself that I have a daughter even 10 months later.

The thought of losing her... Unbearable.

I know the doctors are doing their best.

She wouldn't drink today either. Gah

narmada Fri 14-Dec-12 14:39:59

I hope you get some good news soon, in time for christmas. Life is so, so unfair sometimes.

I am going away for a week but I will check in as I will be thinking about you.

LittleChristmasBearPad Fri 14-Dec-12 20:13:36

Hang in there lovely. God bless you all.

dikkertjedap Fri 14-Dec-12 21:47:21

It is not surprising you keep bursting in tears, it is an extremely stressful time for you. I really hope you will get some answers soon.

How long will you be staying in the UK for? I very much hope you can have a bit of a break.

Sending you lots of positive thoughts.

ChippingInLovesChristmasLights Fri 14-Dec-12 22:06:32

Are you at the hotel yet?

I'm not surprised DH is more worried about you than DD.

Try to look after yourself
x

Hello only just read this but your description of your brave little dd snuggling her teddy makes me feel so sad. I very much hope that you have some answers very soon, from reading all your thread it seems like things are being investigated quickly so that is good.

I don't want to be flippant and say it will all work out, but I would concentrate on the fact that lots of scary things have been eliminated already and you will have your answers soon (fingers crossed).

My hands are a bit dry and scratchy but they are here to hold.

OpheliasWeepingWillow Sat 15-Dec-12 03:00:55

Ok so the doctor has been again and says all tests results aside from MRI are normal. Weight gain in last week nil but hard to track in such as short time as pee / poo / bottle previous all affect results.

Now to see the metabolist / geneticist tomorrow and then maybe a second opinion in Europe or America.

As he says, she SEEMS fine. Is just teeny tiny and curve rapidly descending for no reason.

Dd is banging things together.

I need vodka a cup of tea

OpheliasWeepingWillow Sat 15-Dec-12 03:02:02

So hoping we can get to Europe for Christmas not that I have bought any presents yet

sad

Thinking of you all. Its really good news that they've ruled out a lot of possible complications.
Go wander around chatuchak market for a couple if hours to clear your head. You might even pick up a present or 2.
Hope you get some reassuring feedback tomorrow.

dm1mum Sat 15-Dec-12 09:11:01

I know it might not feel like it but you sound like you are doing really well. Try to give yourself a break and not worry about the unknown. Very hard I know. I really hope you get away for Christmas too - will be crossing fingers and thinking of you this weekend.

bishboschone Sat 15-Dec-12 09:49:12

I know lucky isn't the right word in these situations but you have seen more people in the last few days than I have taken 18 months to see . I certainly would have preferred to get it all over with one go and move on with the information than have it all hanging over me for this long . Stay strong and I hope you get some answers soon x

OpheliasWeepingWillow Sat 15-Dec-12 10:24:27

bishboschone I am really lucky in that our insurance is brilliant - only covers Asia though. I dread to think what hoops I would be jumping through in the UK.

I am currently researching second opinions in London and Germany. Calling in all resources and favours!

Neurologist said today her MRI was definitely not within normal limits or even 'aberrantly normal' if that makes sense (eg at far end of a curve)

Now I need to know if it's metabolic or genetic. Can go from there.

Not very christmassy around here to be honest but at least there is action!

OpheliasWeepingWillow Sat 15-Dec-12 10:26:24

laptop I've gone for a pedicure at a tiny stall type place. It feels good to be out of the hospital tbh although I feel v v v guilty. Can't escape now though - only one set of toes orange.

OpheliasWeepingWillow Sat 15-Dec-12 10:27:50

checkpoint I know. Poor thing with her bear made me cry. Lots of soggy toys what with all the crying ATM.

bishboschone Sat 15-Dec-12 10:30:34

I find it hard to believe that her brain is that of a 7 month old though if she she says mama dada in context . Obviously I'm not a doctor but I have seen so many people and you hear the same questions over and over. Do they say mama , dada etc is a regular . I saw the speech therapist the other day who said ds 5 words was perfectly normal for his age of nearly 18 months ( 2 months premature ) ..

OpheliasWeepingWillow Sat 15-Dec-12 10:38:04

Yes I don't understand the problem but it's more motor than verbal? Her social skills are that of a 12 month old he says so god knows. It's all to do with the movement of the grey matter? Am stumped tbh. And her head is on the 25th centile. Just not growing.

<very very confused by it all>

bishboschone Sat 15-Dec-12 10:51:45

My ds is growing fine but is behind on motor skills . Well globally really , we have had a micro array done after seeing the geneticist . The wait for that here is 8 weeks so hopefully if you have that done its much quicker than that .

OpheliasWeepingWillow Sat 15-Dec-12 12:34:57

Gosh. Good luck. The things we never anticipated...

If you need a second opinion covered by medical insurance in Asia, try singapore. The medical care here is pricey but excellent, English is spoken and its more westernized than Thailand so might be less unsettling place to stay. Also there is no waiting for appointments and similar time zone to bkk so easy for doctors to discuss....

If you need any info about hospitals or anything, let me know, we are on our third posting here, this time nearly 5 years so far. Dd2 went over the back of a high chair last year and smacked her head on a marble floor. She was vomiting so we took a trip and overnight stay to the main private A&E ....the Paediatric neurologist was lovely!

Hope you all have a lovely Christmas, knowing that so much has been ruled out. Wishing you courage, strength and good news x

bishboschone Sat 15-Dec-12 13:01:29

Exactly! Not what we signed up for but that's life isn't it! The waiting is horrendous . sad

OpheliasWeepingWillow Sat 15-Dec-12 14:16:49

Thank you butteflies appreciate it.

Deep breath for tomorrow.

My parents are asking me all sorts of questions that I won't answer (eg MRI results) as I can't bear for them to worry to.

ChippingInLovesChristmasLights Sat 15-Dec-12 14:30:22

Ophelia - the waiting is horrible, but you are very very fortunate (as I'm sure you appreciate) to be in Asia, even though you are so far from friends and family. The wait here (UK) is horrendous (bish's experience is not unusual at all sadly). I hope you get some answers soon.

Would you consider telling your parents, they are worrying themselves silly anyway, they might as well know what the latest results are as you go. You can't stop them from worrying just as in years to come you will worry about your GC and I'm sure would want all the facts.

How are you toes looking?

I seriously need to get mine done! smile

Oh and presents - no one over 10 will worry about presents, delegate the buying for the under 10's to family/friends and pay them later. Everyone will just be thrilled to see you if you get to the UK.

Having a deep breath here too. Not sure of time diff but what time should I send you vibes!!!?

drcrab Sat 15-Dec-12 21:16:36

So sorry to read about this. You must be going spare. My DS was in gosh for 2 weeks and it was horrid (not the hospital just the experience!!).

I second butterflies suggestion re second opinion in Singapore. I'm from there and the hospitals are brilliant. With your private healthcare it'll be a cinch to get the paeds you need.

Let me know if you need help. I have several good friends in private practice in the various hospitals who can recommend consultants if necessary. Big hugs.

OpheliasWeepingWillow Sun 16-Dec-12 03:40:28

Thanks drcrab!

Just waiting for the geneticist / metabolic specialist. It really looks like she can't convert food to fat and muscle if that makes sense.

Ped just came and said we should try and find answers in the next month. Where?! We are already in freaking hospital.

Am shaking in fear.

So tomorrow I hope we fly back to country we work in and then on to Germany the next day (totally outing myself here)

Can't face telling my parents although MIL and FIL know.

There is nothing my parents can do but FIL is doctor so...

What is it's something fatal? Am completely panicking. DH is being sensible. Almost makes it worse!

OpheliasWeepingWillow Sun 16-Dec-12 03:41:47

chipping spent the night on Amazon. Thank god for the Internet and wish lists.

Toes cheery!

MakeHayInAManger Sun 16-Dec-12 05:08:56

Just seen this - hugs and prayers with you,Ophelia.

OpheliasWeepingWillow Sun 16-Dec-12 05:49:59

Sweet lord.

Just saw the top geneticist / metabolic doctor who basically laughed (in a good way) that she has a metabolic or genetic disease. He is doing some overall tests but says that it's not fatal, we shouldn't panic, and that she seems fine hmm He was lovely BTW.

He is the only one who has ever listened to me properly about possible CPMI - we studied her curve against breast milk / specialist formula intake and he will talk again to the gastroenterologist.

Madness I tell you.

I hope it's true though, even if I have to add Hershey's chocolate syrup to the horrible amino acid formula they might prescribe.

OpheliasWeepingWillow Sun 16-Dec-12 05:50:45

And I've just taken half a Xanax. Seriously. Roller coaster central.

FriskyBivalves Sun 16-Dec-12 05:57:14

Have been lurking and worrying... But am so very very very delighted for you. Am in France - given that you are flying to Europe be aware that it's warmer than last week but you'll still need plenty of woollies. How wonderful that you can worry once again about the more mundane things in life - keeping dd warm. Shame to cover up the pedi with socks but needs must...

What does the specialist recommend you do next, out of interest?

OpheliasWeepingWillow Sun 16-Dec-12 06:01:31

Hi Frisky I am so relieved and also just reeling.

Have bought dd a pink snowsuit from H&M. I however have no coat as I moved countries with limited baggage

If anyone in Germany sees a blue skin tinged blonde holding a tiny marshmallow baby that will be me wink

Now for nutritionist and gastro guy again today.

Maybe I should just wean her off milk full stop?confused

OpheliasWeepingWillow Sun 16-Dec-12 06:02:24

Specialist says talk to gastro guy who is rapidly looking like a moron

FriskyBivalves Sun 16-Dec-12 06:09:03

Umm do you need to find a top gastro guy elsewhere? Like germany or Singapore? I guess it's the timeframe that matters here - ie, how urgent is it?

I always thought milk was the easiest way of getting calories into a baby but maybe that all changes once they are on solids. My ds is 14mnths and, ahem, a very solid shape. He weighs 10kg. Considering your dd is six months younger I don't think 7kg - in absolute terms - is absurdly little.. <disclaimer: lying in bed in the dark without access to any growth charts>. I do understand it's the dropping down centiles thing that is worrying.

FriskyBivalves Sun 16-Dec-12 06:10:30

Get nice coat in Germany. Half the price of everything in France according to friends who have just visited from here!

FriskyBivalves Sun 16-Dec-12 06:16:59

Four months younger. Four months. Too early on a Sunday morning for Maths.

OpheliasWeepingWillow Sun 16-Dec-12 07:25:13

Just spoke to nutritionist. She's not convinced but willing to prescribe Neocate or Nutrimagen. The only thing is that because dd has oral aversions the horrible taste is a problem. Last time she refused Neocate to the point of being tube fed!

So we are going to add calories by the shed load in terms of mct oil, avocado and potato, meat and review in a month. If no progress straight to full weaning and no milk in sight.

TBH I may drop a milk feed anyway but what dairy free meal aside from milk has 150 cals at a time?

Metabolic tests coming in two weeks.

I just hate the thought of giving dd milk she cannot absorb.

<round in circles>

OpheliasWeepingWillow Sun 16-Dec-12 07:27:00

Frisky I am seeing a great guy at the Portland in Feb so let's see. It's diagnosis by exclusion right now.

Distracting self thinking of lovely coats

BelinaTheChicken Sun 16-Dec-12 07:37:25

Also been lurking, and hoping everything is ok.

As for high cal dairy free meals, try making things using coconut milk instead (fish pie is amazing like that), DS2 used to love it as he was on nutramigen

Curtsey Sun 16-Dec-12 08:23:10

Hi Ophelia, it sounds like there is some good news in there amongst all the frustration. Have everything crossed for you. Does your DD hate the bottle and cup and everything now because of her milk aversion? I am wondering if you could drop milk feeds from bottle and use the milk to make up porridge, potato bakes, etc. With porridge you could add plenty of maple syrup to disguise the taste, and cinnamon and berries....sorry if that sounds like such a lame idea!

No-one will care if you don't have presents this year! Don't worry about it.

MrsMushroom Sun 16-Dec-12 09:24:09

Curtsey I assume the OPs baby won't eat solids as she has oral aversions.

OpheliasWeepingWillow Sun 16-Dec-12 10:43:30

Thanks all! Gastro guy discounts cows milk allergy but she has reflux, failure to thrive and eczema... confused

Anyway we have agreed to try a month on super high cal cow formula made with mct oil, add mct oil to her food and if no improvement in one month wean her completely.

She will take solids after only 3 months of thrice daily therapy but only to In the Night Garden. I hate Upsy Daisy.

Anyway am not particularly happy with the plan but can't imagine how the hell I would get her to take amino acid formula again.

Plan for foods

Avocado
Chicken thighs
Duck / goose fat in food
Potatoes
Coconut milk (thanks!)

Anything else?

Metabolic tests come in two weeks.

OpheliasWeepingWillow Sun 16-Dec-12 10:45:40

Curtsey not lame at all. When she was on Neocate (failed to drink it) I swear sometimes it was 50% golden syrup!

Metabolic guy says she needs 750 cals a day. That's a huge amount. I may need to put a pizza in the blender.

drcrab Sun 16-Dec-12 10:55:05

Just wanted to add that a friend of mine has a daughter who's about 15
Months old or so. When she was born she was constantly throwing up etc. her weight dropped rapidly to below any centiles.
Eventually told that she was failing to thrive and put on all sorts of med to stop reflux and promote eating. She didn't walk at the 'normal' times. All delayed.
She's much better now that she's putting on weight. The med have worked. Still slightly delayed but normal development if that makes sense.

I hope that offers some comfort. Big hugs.

Curtsey Sun 16-Dec-12 11:15:10

Mix the avocado with banana - makes it taste amazing. I think bananas are also quite high in fat.

Nuts and seeds are very fatty but check that with a nutritionist regarding your DD - not sure if she's prone to allergies. If you got the go-ahead you could grind them up and add to other stuff.

Just want to say again that she sounds v similar to my 10- month old! As far as I understand crawling requires quite a lot of brainpower so that alone is fab.

Curtsey Sun 16-Dec-12 11:18:34

Oh and a family member who is trained in this stuff swears by the babybel cheeses that come in the red wax wrapper as a way of getting babies with food aversions to take an interest. But again, if you're still not sure about cow's milk that might not be your first choice.

BitBewilderedChristmasTree Sun 16-Dec-12 11:30:43

Is fatty fish any good? No idea about aversions, but it's high fat and nutritious and mashable.

OpheliasWeepingWillow Sun 16-Dec-12 12:42:50

Ooh good suggestions.

What kind of fatty fish? bit fick about fish

Maybe I will try tahini with something added to make less gloopy?

Tahini and avocado?

Can't believe she is drinking less of the high cal formula. Wah.

And has refused evening bottle. Honesty. Saga.

Curtsey Sun 16-Dec-12 12:51:00

Salmon is probably the easiest fatty fish, and it's very good for babies. Mackerel too. Hard boiled eggs are also great, mix with mayonnaise for egg sandwiches.
Soon she'll be a right little fatty )

Haberdashery Sun 16-Dec-12 13:21:20

Might she eat taramasalata with something? It's madly calorific and very tasty.

Badvocsanta Sun 16-Dec-12 13:28:37

Lurker here with some suggestions...
Almond milk?
Coconut milk?
Banana
Avocado
Peanut butter - you are in hospital,so even if she has a reaction dd will be fine.
Eggs in all forms
Tuna/salmon/mayo
You can put most meat/fish/chicken in mashed potato/sweet potato ime.
Good luck x

hello, sounds like a bit of good news re the non-life threatening! Phew!
thinking of you trying to feed the little monkey!

OpheliasWeepingWillow Sun 16-Dec-12 14:42:35

Great food suggestions. Awesome. Looking forward to her face when I present taramasalata.

Got told off for feeding her Ella's Kitchen - calories not high enough (only fish one is really good apparently)

They just delivered 30 cans of specialist formula to the room and a litre of MCT oil. God knows what customs are going to think and how I will get in suitcases grin

Have all her records from super efficient nurses, including MRI video. Really impressed by their systems. That's just the geek in me.

Wondering if I should start waking dd in the night for feeds? It would mean lights on, play, wait half an hour, feed, resettle. Not keen TBH... But if needs must confused

drcrab Sun 16-Dec-12 14:52:17

And another friend who lives in Canada. She was told her daughter was not thriving. Slipping down percentiles. Told to force feed fat, butter etc. she is now 8? And looking v well, hitting milestones. smile

SlightlyCrumpledChristmasPaper Sun 16-Dec-12 15:51:43

Hi Ophelias, my DS2 was failing to thrive & just slid down the percentiles. He was under a dietician in the end & we had to basically put olive oil, cream and / or butter with everything. So if he had pasta I'd coat it with loads of olive oil before doing anything else with it. Cream in his porridge etc.

It is such a worrying thing but despite his other medical difficulties he did put on weight. DS had an undiagnosed cleft palate and milk feeding was very uncomfortable & difficult for him (we now know!), solid food was actually much easier.

Wishing her well soon. smile

BitBewilderedChristmasTree Sun 16-Dec-12 15:57:49

I think salmon, tuna (fresh, not canned), herring types like mackerel, trout. All can be fried or steamed and will mash down well if she doesn't like lumps. Would taste ok mixed with avocado and/or tahini. I hope you get a bit of peace and gin over Christmas!

What is MCT oil? <baffled>

Badvocsanta Sun 16-Dec-12 16:29:49

My ds1 was a ftt baby. What really helped was weaning. Sorry. Its not a popular view on mumsnet but its what worked for us...by the time he was 1 he had gone from not even on the growth chart to 75th centile! smile I weaned ds1 at 14 weeks. He needed the food/nourishment/calories. Good luck x

Hi Ophelia, good to hear your news. It is really re-assuring although I appreciate you are still awaiting some results.
I hope you have a lovely relaxing holiday.

Second suggestions above.
Ds (as a toddler), survived on 3 spoonfuls per meal, so made every bite count.
Can I suggest:
- baby pasta cooked in full fat MILK / rice pudding (you can mix in an egg yolk at the end and add butter or mct oil + full fat grated cheese before serving)
-porridge oats again cooked in full fat milk + dried apricot or mashed banana//pumpkin etc… + a dollop of cream or full fat yogurt.
-lamb stew cooked with a bit of coconut milk and sweet potato then mashed
-acocado/mango/apple sauce with baby rice/cream & mct oil

If I may suggest, try and draw some local wisdom from midwives/nurses where you live. I spoke to a fantastic confinement nurse I met through a doula in singapore. I'm sure there are age old recipes to fatten up babies in your parts.
Whilst in the UK DS was weaned on sterile baby rice, in asia, DD was fed chinese rice porridge cooked with (unsterilised grin small dried anchovies (for calcium as dairy is very uncommon in the local diet). And lots of veggie south indian recipes that minus the spice are great foods for babies:
-fruity lentil daals cooked with coconut milk
-bean stews
-"idlis" which are melt in you mouth gram and rice flour steamed dumplings with yogurt dips etc….

hope that helps expand the recipe book.

x

OpheliasWeepingWillow Mon 17-Dec-12 07:51:01

Thank you laptop - will try all!

Am having a fabulously ironic day where dd is refusing her lovely enriched formula.

Bah. Am spooning fish mixed with MCT oil into her fussy but cute little mouth

OpheliasWeepingWillow Mon 17-Dec-12 07:53:11

badvocsanta believe me of she would eat in any quantity the bottle would be gone in a shot! Tried since 18 weeks... blush

Badvocsanta Mon 17-Dec-12 08:26:12

Hmmmm...tricky.
I think you are doing all you can.
Try to be kind to yourself x

ReallyNotTotallyStupidPromise Mon 17-Dec-12 16:51:10

I'm a little confused confused - what have they now said about them declaring that her brain didn't have any growth after 7 months & the proclaimed delayed brain development?

OpheliasWeepingWillow Tue 18-Dec-12 00:12:55

notsaid they said come back in a month! Each specialist passes the buck to the next one. Neurological consultant thinks genetic but geneticist thinks that is nonsense and she is fine.

So god knows. sad

OpheliasWeepingWillow Tue 18-Dec-12 05:06:07

Oh dear. Getting her to eat or drink this new milk is so stressful.

I wish I had just flown to London as a previous Portland consultant advised and has a gastrostomy for her. I am sure she is not getting enough calories somehow.

We have two weeks of waiting for metabolic tests and a month waiting for the follow up appointment.

They have already told us to go to Europe for a diagnosis though. Helpful.

Should I:

Go to the Portland as soon as Christmas is over?
Wait until end of Jan to go back to BKK?
Find a specialist (in what???) in Singapore?

My insurance only covers Asia....

FlimFlamMerrilyOnHigh Tue 18-Dec-12 05:35:39

Hi Ophelia. I'm in Singapore, as are quite a few other MNers. Let me know if I can help with anything from a practical point of view. When do you fly to Europe?

OpheliasWeepingWillow Tue 18-Dec-12 06:35:59

Thank you FlimFlam

What's the best hospital there? I honestly hear so many opinions I am flummoxed!

FlimFlamMerrilyOnHigh Tue 18-Dec-12 07:44:58

I don't know, tbh. I will post the question in Living Overseas for you. Are you here in Singapore now? Or have I misunderstood?

drcrab Tue 18-Dec-12 08:00:12

All the hospitals are really good in Singapore. If you pm me I'll find out which consultants will be able to help in terms of what's happening to your baby. There are lots of private practices in mt Elizabeth or the mt Elizabeth novena hospital. Others are in gleneagles. There's also a specialist children's hospital. I'm pretty sure they take private patients too.

Like I said my DS was warded at gosh in the summer for two weeks. Currently under the care of consultants there. But when they were figuring things out (at the local level etc and when GPs were fobbing me off) I rang an old friend who immediately put me in touch with a consultant in the right field immediately. I had answers in a day (given the time difference it was great!!). Also had help from a prof in Stanford too. smile Let me know if we can help.

FlimFlamMerrilyOnHigh Tue 18-Dec-12 08:06:38

I've started a thread in Living Overseas www.mumsnet.com/Talk/living_overseas/1639135-Singapore-folk-can-you-help-this-mum-re-choosing-a-hospital-for-her-baby

OP if you post on it then you'll be able to find it easily again by checking 'threads I'm on'

Hope that helps - or that drcrab will be able to help you.

OpheliasWeepingWillow Tue 18-Dec-12 08:40:37

Aw thank you!

Am living in Vietnam but insurance covers all of Asia.

Just had result that she has low T4 googled and now scared and off on Xmas holiday tomorrow for two weeks.

Am all systems go finding solutions so thank you!

I am in singapore. Most expats go to either mount Elizabeth or gleneagles hospitals but many consultants here are cross hospital like in the uk, so work private and non private hospitals. By the way, the standard of care in non private hospitals is as good as private ones from what I've heard (private ones are more luxurious, like hotels, that's all). For a child, I wouldn't hesitate to go to kk women and children's hospital. I have heard great things about it, it's centrally located, enormous and well known thoughot the region. If I were you, I wouldn't ask a forum about Singaporean specialists (unless a poor mumsnet tear has been in your nerve wracking position), I would ask at your hospital in Thailand. They should be able to refer you to a raft of specialists in singapore.

dikkertjedap Tue 18-Dec-12 09:07:47

Personally I would go to the Portland. I have been there a lot with my DC and they have always been very very good. Basically we saw top NHS consultants who also work privately for the Portland. And (at a price) we did not have to wait for ages ad we were helped straight away and not sent from pillar to post.

I think only really the best consultants work there. The care is second to none.

I can't judge hospitals in Asia as I have never been there.

FriskyBivalves Tue 18-Dec-12 09:23:53

Low T4, I think, is to do with the thyroid not working correctly. A friend's son was diagnosed with this but I think the docs were slower off the mark. He was like your dd - fine at first but then not growing to the charts. Now he has a daily pill - the dosage is regularly monitored and they tweak it quite frequently - and is doing really well now. They don't think he had it from birth because he showed none of the typical symptoms. It was only because he was little too that they thought to test it.

My friend was told that it may have come on as a result of been one of those auto immune things where body wrongly believes there is something amiss...

If it is a thyroid disorder then I think the quicker your dd starts taking artificial throidy stuff the better. Is it worth trying to set up a telephone consult with the Portland and seeking their advice of what to do first? It may be that you have to rearrange your Xmas hol a bit!

Apologies if this all sounds very secOnd hand and hearsay.

Still holding your hand

dikkertjedap Tue 18-Dec-12 09:48:33

When you saw the geneticist did he actually do any tests?

FriskyBivalves I expect that the reason a geneticist may need to be involved is the combination of small head circumference, low T4, hypotonia, feeding difficulties.

OpheliasWeepingWillow Tue 18-Dec-12 11:04:36

Thanks Butterflies Bumrungrad refused - professional pride I guess. They said go to the UK... hmm

OpheliasWeepingWillow Tue 18-Dec-12 11:05:25

dikkert metabolic tests but said he expected them to be fine. Did not do genetic tests and said he was almost certain not genetic

OpheliasWeepingWillow Tue 18-Dec-12 11:08:29

I really think this is a feeding thing of some type.

She has had 300 cals today, vomited at the sight of her 5pm bottle (leaving us both crying btw) and is not taking solids now.

I think cumulative under nourishment is definitely somewhat behind all this (many threads sad )

Have emailed guy at the Portland and am waiting for response. Hardly any wet nappies today but she will sip water.

Just not sure which avenue to explore first. Feeding / calories is my instinct

OpheliasWeepingWillow Tue 18-Dec-12 11:09:48

Frisky thank you for that. Will push harder for info.

Anyone got some wine?

drcrab Tue 18-Dec-12 11:17:14

ok I've emailed my friend. will let you know asap when I hear back. hang in there.

alardi Tue 18-Dec-12 11:30:35

so sorry to read this sad
To me she does sound advanced for her age (I've got 4 older dc)
Have courage.

drcrab Tue 18-Dec-12 11:39:00

I've just sent you a pm with the details of the recommendation. hope you can access that. if not, let me know and I'll put it on here.

ReallyNotTotallyStupidPromise Tue 18-Dec-12 11:44:48

winewine & more wine - I just wish I could deliver it in person with a <hug>

I have no idea what would be the best thing to do - but I suspect I would throw shit loads of money <that I absolutely DO NOT have - credit cards, parents - whatever it takes> at it and go to the Portland on the basis that you can't put a price on it and I would feel better being in England. That doesn't mean it's the right answer for you though. If you are happy with an Asian hospital, I would go to Singapore - once again, just my personal choice.

Will your DD eat anywhere 'unusal'? Sounds like an odd question I know, but my friends little boy went through a serious food.bottle refusal stage (at about 11 months), the only place he would eat was in the bath. All very odd.

FriskyBivalves Tue 18-Dec-12 11:45:45

My friend is interested to know if they have also tested her FSH levels? That the thing that stimulates the thyroid gland into working I think. Or the pituitary. But she says they should have levels for both...

I hope you're managing to get some sleep but bet you're not.

Sips of water are good. I know absolutely nothing about this but has anyone mentioned a gastric tube or IV line to get nutrition and/or fluids in? If the docs were really worried about the intake would they suggest that?

FriskyBivalves Tue 18-Dec-12 12:30:08

Oops. TSH levels, not FSH. Think the latter is something to do with the menopause blush blush

marriedandwreathedinholly Tue 18-Dec-12 12:41:21

Google British Thyroid Foundation. They have info on thyroid disorders in children and I believe a help line for support and information.

lougle Tue 18-Dec-12 13:19:01

I know you said she has oral aversions, but would you consider trying the NG tube? They are so fast to place, and that way you could rule out pure input insufficiency.

ihearttc Tue 18-Dec-12 13:58:47

I maybe way off track but if Im reading it right (and I must admit I have read it all rather quickly) the main problem at the moment is her lack of growth and oral aversion?

When they did the MRI was it just of her brain or did they check her heart etc as well?

My DS2 was premature (which isn't really relevant)and only weighed 1.6kg...by 10 months he was only 5kg and was struggling to feed. Milk was an absolute nightmare to get down him at all...he would fight and scream and it was like I was poisoning him. Got refered to hospital and he had a Barium Swallow done and it was found he had something called an Aberrant Right Subclavian Artery...basically one of the arteries from his heart had come off in the wrong place and was pushing on his osophagus. On the xray from the swallow there is a literally a huge dent in it so hardly anything can get through. He had loads more tests done at GOSH as they thought it was something called a Vascular Ring which is basically when the whole osophagus/trachea is encircled but luckily it isn't. The symptoms are very much like reflux...and is especially bad with liquid. Its sort of like a splash back effect when the liquid goes one.

As I said Im probably way off the mark but I would think it might be an idea for them to investigate other areas of her anatomy as well.

And for what its worth I think she sounds amazing and very advanced!

OpheliasWeepingWillow Tue 18-Dec-12 14:14:27

Yes thanks all. I am sure it is calorie related having done some more research not that I am a doctor

iheartttc barium meal number 1 abnormal, BM 2 'normal' but I don't trust the gastro ped. No Heart MRI as she woke up after 10 minutes despite 2 doses of sedative.

lougle I just can't do it to her. Last time she pulled it out 4 times in one day and it left her with three months of feeding therapy. Gastrostomy am fine with TBH.

frisky yes NG tube mentioned loads, also G Tube but they would not fit Gtube in BKK and could not in Shanghai unless I went to local hospital where there was urine on the floors of the waiting room and children defecating in corners watched by their parents

drcrab am going to contact your dr recommendation

I have a plan in place now.

1) Go to Germany tomorrow. Dr FIL trying to make emergency pediatric appt for us. See what happens.
2) Have made apt at Portland on the 8th to see this chap who was the one who first alerted me that there might be a serious issue. Throw self on his mercy. They replied really really quickly.
3) Have contacted insurance company to see what they recommend just for the sake of it.

reallynotstupid yes am now just going to throw money at the problem in a highly targeted and aggressive fashion. Am extremely fortunate to be in the position to do so thank god. And when that runs out I have Visa. Then I'll sell whatever the hell I have to down to my socks. As for the bath - that's where she has her sippy cup. Mad right?

OpheliasWeepingWillow Tue 18-Dec-12 14:15:46

(Thank you to everyone who has replied on this thread. I am really grateful)

drcrab Tue 18-Dec-12 14:18:54

great - I'll PM you his email add when I get it. good luck. big hugs

dm1mum Tue 18-Dec-12 17:17:19

Good luck, still thinking of you. Hope you have a smooth trip to Germany.

Badvocsanta Tue 18-Dec-12 17:42:12

Best of luck op.
My ds1 was tube fed for a little while and although it was distressing it helped.
His now a strapping 9 year old btw!
Xxxx

ReallyNotTotallyStupidPromise Tue 18-Dec-12 19:50:52

That sounds like a brilliant plan & I'm pleased you now have a plan, I think that always makes things seem a bit more 'OK' & do-able.

Do you get on with your in-laws? Will it be a 'good' place to be?

Sippy cup in the bath - no bother at all. My friends DS literally ate anything/everything he ate, in the bath. It was a PITA at times, but we joked that it was actually very practical and yet more proof that we could multi task wink To be honest, at the time we would have stood stark naked in the middle of town if it got him to eat! <locals can thank god it didn't come to that>

BitBewilderedChristmasTree Tue 18-Dec-12 21:36:23

Ok. Good plan. Try really hard to get rest and food yourself. You are doing so well and I hope someone says 'Oh yes, I've seen this before. Here, let me fix it for you.' very soon.

Totally unrelated, but my DS had a Complex Focalised Seizure a year and one week ago aged 10 months. He is totally fine, it was a one off, but the worry we went through while waiting for the MRI was awful. I am holding your hand with all the others.

narmada Tue 18-Dec-12 22:59:19

Still reading and still thinking of you. On holiday at mo. Best of luck in Germany - what a journey you are on, physically and emotionally. Fingers xd for diagnosis soon.

drcrab Wed 19-Dec-12 07:58:10

Have just pm you the contact details. Good luck. Hope you had an uneventful flight over here.... smile

Alibabaandthe40nappies Wed 19-Dec-12 20:16:48

OP that sounds like a good plan. Thank God for contacts and cash.

Fingers crossed for you

OpheliasWeepingWillow Fri 28-Dec-12 12:28:42

About to see specialist in Germany. Dd has had about 600ml over 3 days. Clamps mouth shut at bottle and spoon.

FIL (dr) says he does not believe in gastrostomy as it disturbs the mother child feeding relationship. Ha. What feeding relationship. Anyway - am staying with PIL so trying to not argue.

Consultation will be in German. I only speak pidgin German.

The weight is falling off dd and London appt not for another week.

Scared now.

dm1mum Fri 28-Dec-12 13:17:41

Ophelias really sorry to hear that things are no better. I hope your consultation today goes well. It must be so hard. I am thinking of you and your DD.

FlimFlamMerrilyOnHigh Fri 28-Dec-12 13:25:55

I hope the specialist has some answers and a treatment that works, Ophelia. Wishing you both well.

cynner Fri 28-Dec-12 13:29:52

My thoughts are with you..xx

narmada Fri 28-Dec-12 15:15:51

Mine too. I have been wondering about how you were getting on over Christmas.

Fingers crossed that something positive happens today.

OpheliasWeepingWillow Fri 28-Dec-12 16:09:35

Well the specialist says nothing wrong with her she just doesn't want to eat.

Thanks Einstein.

Never mind the hiccoughs, swallowing, gagging and bottle refusal.

Super.

He said to take her to London.

So that's China, Vietnam, Bangkok an Germany. Is there hospital bingo?

He also said to get a feeding therapist. She has a feeding therapist FFS. Therapist says she has silent reflux and to see a specialist.

Great!

Anyway am going to see Mike Thomson at the Portland week after next.

And dd has lost weight.

Crying to be honest

OpheliasWeepingWillow Fri 28-Dec-12 16:12:33

Thank you everyone for your thoughts blush Just ranting.

cynner Fri 28-Dec-12 16:13:54

Bloody hell, Ophelia! I was so hoping you would get some answers! You have been through so much...love and hugs to you both..

dm1mum Fri 28-Dec-12 16:36:05

Rant away!!
Will be hoping for more success next week.

OpheliasWeepingWillow Fri 28-Dec-12 16:53:31

Is just a massive case of each specialist going eek! And pushing us somewhere else. I am going to London and drawing the line in the sand. If I need to get her a gastrostomy, fifteen feeding specialists and a shiny unicorn I will. I just want some fecker to help me put together a PLAN.

Anyway. My Mil has just made us all eat a plate of amuse bouche in front of dd (who also fed herself a little). TBH it's the most helpful anyone has been in a month. And yes, I have a MIL who whips up amuse bouche grin

Rant.

larrygrylls Fri 28-Dec-12 16:59:49

Before you spend a small fortune at the Portland, have you thought about sending a summary of all the reports to GOSH and seeing if they will see you under the NHS? It does sound a complex case (I posted on your original reflux thread and have been silently following). I am assuming that you are British and can use the NHS. If you have a lot of money, the private route may be good but I can see this costing many £000s to get to the bottom of it, plus private prescriptions etc etc.

Sometimes for very complex (and interesting to specialists) cases, the NHS can actually do a better job.

OpheliasWeepingWillow Fri 28-Dec-12 17:32:17

Wise words. I absolutely would but I have the first appointment available for the top guy Mike Thomson. He has been recommended by about a thousand people including my insurance company and International SOS.

My insurance company MAY pay for all treatments...

Also my dd is not British. Not sure how that figures in NHS.

Anyhow am just tired now and will go and see Mr Thomson and just ask him what to do. He seems fairly sensible from his emails.

Your suggestion makes loads of sense to be honest. Am just exhausted from chasing people from pillar to post.

bamboozled Fri 28-Dec-12 17:57:22

The doctors at the Portland are fantastic - we see John Fysh, I think he saved my sanity when my daughter had terrible reflux (aspirated into her lungs at 7 months) and still GP told me I was a neurotic mother. He had us at gosh for tests in 24 hrs and we never looked back. We still see him now when we have 'real' things going on, other than tonsillitis etc... and he is as kind now as he was then, phoned his sectretary from his holiday with a treatment plan when (pesky)daughter was rushed into hospital with an auto immune thing when she was 8, after I had phoned his office in a panic and she told him about my call.
Once we got her reflux medicine sorted - she was a different child -( can be sick into a crisp packet if need be, but so much happier and started to put on weight) Also, have you heard of the NoTube clinic.. For tube fed babies who won't eat once they can and for babies/kids with eating aversion... Was recommended by speech/feeding therapist to a very close friend of mine. Sounds a bit showy but apparently has fantastic results, once medical reasons have been diagnosed/excluded.
Best of luck

giraffesCantFlyLikeReindeer Fri 28-Dec-12 18:35:01

Just adding some support. Hope you get some answers from the new guy!

narmada Fri 28-Dec-12 19:20:57

So sorry you have not got any joy today....apart from the amuse bouches.

My DS was nowhere near as bottle-refusenicky as your DD but I do remember well that feeling of going from pillar to post in search of answers and just thinking why can't anyone bloody well sort this out?

I think larrygrylls and bamboozled have made really good points. The rules used to be that you had to be ordinarily resident in UK or EEA to qualify for NHS treatment but I don't know a) whether this has changed or b) whether hospitals have some discretion to treat individual patients who may not qualify.

In your position I would do the same - throw money at it until next week is done with at least. Then you can think about other options, including the NHS.

ChippingInLovesChristmasLights Fri 28-Dec-12 19:37:35

Oh love - it's all so hard isn't it sad

Your MIL is sweet though! See what she'll whip up for breakfast tomorrow that might temp Little Miss Refusnik - every little will help until you get this sorted.

If it were me, I'd call/email/send smoke signals to Mike Thomson, tell him how much weight DD has lost this past week/fortnight/whatever and BEG him to see if he can't fit you in sooner.

We're all thinking of you
x

bamboozled Fri 28-Dec-12 19:48:56

Just to clarify, we were went from the Portland to GOSH for testing but privately... Tests were covered by our insurance company - I didn't realise you could have private tests done at GOSH, but we did so I guess it happens - this was for a barium meal on a 7 month old, which I guess the Portland didnt do inhouse.
My pesky one - I can say that wrily now, but was at my utter wits end, stopped feeding at 5 weeks as apparently babies can associate things (bottle/boob) with pain that early on... We could only feed her in her sleep, as she still sucked without realising what she was doing... Tricky if she had been my first - damn near impossible with a sister 16 months older... Once we got to the bottom of it, proper meds and proper medical support, life became so much easier.
She's fine now, skinny slip of a thing, and a fussy eater but give her the things he likes and she eats like a horse, really clever and really sporty (proud mum!) but when she was a baby, I couldn't see from one day to the next
I really hope things start to look up for you,
Xx

drcrab Fri 28-Dec-12 21:34:53

I hope you get some answers. Did you make an app with the guy in Singapore? (Global hospitals bingo!!) he's an endocrinologist. Tbh wasn't sure why you'd not been told to see one of those due to the ftt/growth etcetc? But doesn't matter. As long as there'll be answers. Hang in there. Xx

OpheliasWeepingWillow Sat 29-Dec-12 18:13:57

Thank you everyone. We are now feeding the bottle in the drawing room with the videos to see what that does. No improvement really. Have her lunch and she vomited it back up in protest sad

Basically whatever else is wrong with her she needs calories. I can see her ribs now.

I did look up the NoTube site but am a little scared as dd has no weight to lose and it seems a little extreme. I would feel better about it if she had eg a kilo of leeway.

Hope the Portland are good. Am tired of docs not taking responsibility and passing us forward. Don't care if the Portland are rude / strident and or annoying as long as they HELP.

tangledupinpoo Tue 01-Jan-13 15:26:19

Hi Ophelias, just checking in on you and sorry to see your DD's problems are no better. It must be gut-wrenching for you, the worry. I see this thread is a few days old now but I hope that perhaps things have stabilised until you go to the Portland next week. FWIW, we went to an endo there who used to work at GOSH, and he was the first to clinically diagnose DS1 and was a huge help in setting out the begins of some sort of treatment protocol. Good luck, thinking of you all.

OpheliasWeepingWillow Tue 01-Jan-13 15:30:08

Thanks Tangled she's drinking OK with TV and happy clapping. Food not so good but we have backed off now as she just SCREAMS. My DH goes back to Asia on Friday and I won't see him for a month so not looking forward to that. Important for DD though.

Deep breathe and onwards!

Am wondering how the heck one gets from London to West England on a train with a baby, cot, stroller, car seat and suitcase hmm grin

OpheliasWeepingWillow Tue 01-Jan-13 15:31:03

Hope your DS is ok now

duchesse Tue 01-Jan-13 16:47:40

Hi Ophelia, I didn't want to read your thread and run, even though I have very little to contribute. I just wanted to mention that all three of my daughters weighed 7 kg at 12 months (having stagnated from around 9 m onwards as their activity levels increased - the older two of the DDs were walking at 10mo). DD1 and DD3 were tricky little monkeys to feed. DD1 is now 17 and a perfect height and weight for her age. I was worried by health visitors a lot when DD1 was small. DD2 was similar to DD1 so they worried me less about her not eating.

In the end I fed DD3 in front of the telly- with her eyes glued to fecking Zingzillas, I could get a decent amount of breakfast down her and eating something seemed to kickstart her appetite; this was when she was a bit older than your DD is now as she didn't really start solids until 10 mo despite having been introduced to them from 7 mo. When she was really off food (ie when was unwell), the only thing she would accept was formula and breast milk, which she basically lived off from birth to 10 months. DD3 is the only one of the 3 DDs where I've really had to cave in and give her what she wanted or she'd just not eat. (so much for people saying "she'll eat when she's hungry"- she never appeared to equate feeling hungry with eating). I have been known to feed DD3 utterly inappropriate things like chocolate just to get some calories into her.

I hope you get some answers soon- it's so worrying when you have a child that just won't eat. I know this sounds stupid (and given that her weight loss as you've charted in on this thread seems to mirror lack of eating) but has she been screened for parasites and worms? Dniece had Giardiasis (sp?) for several months at under a year old (caught from her bathwater in London) and was diagnosed with FTT before they realised what the real problem was.

blondefriend Tue 01-Jan-13 22:06:41

Mike Thompson is meant to be very good. Are you on facebook? Try the group "the Reflux Room" - i've had some excellent advice on there from some very experienced reflux mums. My son was tube-fed until 10 months and is now a bouncing 2 year old - typically fussy but eats well.

giraffesCantGoFirstFooting Wed 02-Jan-13 09:38:07

Thinking of you, hope this year brings some answers x

bamboozled Thu 03-Jan-13 21:33:46

How are you getting on.. Any more answers - I also fed the pesky one in font of the tv for about 6 months as it took all the pressure off 'the mealtime'..
Equally, aged 10, if she is looking too skinny we have a few tv meals and its amazing how much more she eats... The difficult bit is just going with whatever works for you and telling all those who talk about unhealthy eating habits and tastes to sod off.... !

OpheliasWeepingWillow Sat 05-Jan-13 12:45:55

Thank you bamboozled giraffes Blondefriend duchesse and all.

Well I have stopped TV for solids as have stopped solids altogether as she was just gagging and being sick. She will gum happily on spaghetti though so now three times a day she sits in front of a big pile of it and sort of stuffs it in her face. It then falls out again but progress I think.

duchesse yes the hunger + food connection has not been made. In fact, she seems to have only use got the Hunger + milk connection.

Still giving her milk in a quiet room with an iPhone app - will take about 120ml at a time.

No idea how I am going to wean her. She will take water through a straw but milk only from bottle. Looks like BLW re food from now on but calorie content almost nil. Gah.

Anyway, at least she is drinking milk today. Is a start. Off to London tomorrow and we'll see what happens. I definitely need professional help with the feeding as it's very much cyclical and have left our feeding therapist behind in China.

redwellybluewelly Sat 05-Jan-13 23:03:56

Just read this thread. Dear lord what an awful month for you all.

Only contribution I could make is to cook everything in coconut oil which ramps up the calories. Even spaghetti.

Dd was listed as FTT. She had a terrible start in life and was ng fed. I breastfed but she refused solids until 14months. Dairy and soya have to be avoided at all costs now and fat is very difficult to get into her. She has slowly gained weight but we rely on food not dairy products for fats and calcium.

I hope port land and the new year bring some answers

hellymelly Sat 05-Jan-13 23:18:27

Wishing you the best of luck in London-hope you get some answers now.

ChippingInLovesChristmasLights Sat 05-Jan-13 23:58:53

I hope you get some answers soon!!

It's a bit rubbish your DH has gone back to Asia and you have to deal with all of this on your own sad Do whatever you can to make life easier. If you have the money, you could pay someone to travel with you and help you out.

duchesse Sun 06-Jan-13 00:13:40

Has she had a swallow test yet? I can't remember if that's one of the things they did in Thailand/. Good luck for your next appointment.

narmada Tue 08-Jan-13 09:22:59

Hello Ophelias. Hope you are now finished travelling and a bit closer to answers xx

dm1mum Tue 08-Jan-13 13:38:47

Hope your appointment goes well OP.

bamboozled Tue 08-Jan-13 17:51:17

Hi Ophelia, how is it going? Have you had your app yet? Have been thinking of you x

ilovesprouts Tue 08-Jan-13 17:54:24

i have ds2 whos 6 still no dx ...

OpheliasWeepingWillow Tue 08-Jan-13 19:30:37

Update! thanks for asking everyone

OK, so I saw Dr 1 at Harley Street who said brain seemed OK but is getting someone else to look at the MRI video. Likely just undernutrition. He was lovely. Said seems she has Silent Reflux and not some underlying disorder such as genetic or metabolic.

Went today to see Dr 2 at Portland Hospital and he said:

Definitely Silent Reflux. She's below the 0.4th centile now (so super skinny) and her height has dropped from 97th centile to 50th (!)
Doubled her meds
Is not going to endoscopy or biopsy etc as positive result would not change his treatment protocol.
He recommended dietician so am seeing her tomorrow morning to see what can be added to her formula to make her fatter
Seeing another feeding therapist next week.

He was extremely calm, matter of fact and to the point. Very reassuring and am seeing him again in two weeks.

DH not coming over for a month but am so GLAD I have someone who actually knows about Silent Reflux and who BELIEVES ME.

Happy now. DD has been crying for bottles today (!) and she fed herself a piece of croissant so I am ramping down the panic for now

OpheliasWeepingWillow Tue 08-Jan-13 19:31:08

ilovesprouts am sorry re no dx sad for your DS

BarbarianMum Tue 08-Jan-13 19:37:31

Wonderful to hear some good news smile, it really sounds like you are getting somewhere now.

Silent reflux on this scale is awful but much better news that a metabolic condition.

narmada Tue 08-Jan-13 19:39:20

Hurray. I am so pkeased for you. There is an American website that recommends megadoses of PPIs for v severe reflux. Sorry can't remember its name but sounds like this may be path yiyr UK docs following.

She is sounding more and more and more like my friend's daughter. She is two and a half now, super cute, and intelligent.

OpheliasWeepingWillow Tue 08-Jan-13 19:39:47

BarbarianMum yes, Dr 1 called her a 'Reflux Cripple' (!) but at least I am being taken seriously at last smile

takeaway2 Tue 08-Jan-13 19:50:34

Oh brilliant!! smile It's great to have a diagnosis finally! Lets hope the drs get it all right from now. When do you go back to Asia?? Or will you be here for the near future?

Madsometimes Tue 08-Jan-13 21:16:07

I'm a long time lurker, and am so glad that you have seen a doctor that understands.

My dd's didn't eat solids until they were one year. They had a terrible gag reflex and hated solids. Fingers crossed your dd will slowly get the hang of eating.

bamboozled Tue 08-Jan-13 23:24:11

Oh I am so pleased, at last there will be a plan! isn't it a relief when they say - oh yes, that's terrible reflux - I cried with relief when the pesky one had her barium swallow and the consultant actuslly saif "oh my god" when we watched her stomach empty itself back up. Life can ony get better from here xx

Alibabaandthe40nappies Tue 08-Jan-13 23:34:16

Ophelia I'm so pleased you've got a diagnosis! Fingers crossed she keeps going with the milk.

ovenchips Wed 09-Jan-13 10:39:03

I am so pleased you are finally getting somewhere. It was a bit scary just reading the thread and imagining the worry and distress.

I also just wanted to say a big well done to you for getting to where you are now. It hasn't been easy (understatement) but you've been amazing in your quest for answers.

I really hope it's all onwards and upwards from now. It sounds like it's happening already. If you are at all able do update the thread with how your lovely DD is doing.

tangledupinpoo Wed 09-Jan-13 11:52:38

So pleased, Ophelias, that you've got a diagnosis and treatment plan. Fantastic news.

I hope the treatment starts working very quickly.

We found that, following a endoscopy and tripling of DS's reflux meds dose, he was almost instantly easier to (tube)feed, and from that point his weight and height line on the charts slowly and steadily climbed smile. He was on 30mg Losec daily at 9.5kg weight at one point, so mega-dose.

Very much hope the tough part is behind you now and your DD goes from strength to strength.

bamboozled Fri 11-Jan-13 19:51:01

How are things going - is she eating more now her meds are increased?

OpheliasWeepingWillow Sun 13-Jan-13 16:35:02

Well last week we saw a dietician who added Duocal to her feeds but dd has still a 300 calorie deficit every day which we cannot fill with solids as they make make her vomit.

So we saw a child psychologist / feeding therapist recommended by the consultant who, after two hours of observing dd, said her problems are clinical not psychological. So she could not help.

No improvement seen yet on the 20mg Nexium although she does seem to be crying for milk. She gets to 100ml and arches and cries sad

Hoping it will get better over the next week.

I need to try dd on spoon feeding again but am so scared. It results in retching, gagging and vomiting and the effects spill over to her bottle feeding.

Dietician said she suspects milk allergy but that means Neocate and there is no way in hell dd will take that. Maybe if it is 90% chocolate syrup...

Anyway I am not feeling so hopeful now. Both dietician and therapist said I need to consider tube feeding if consultant thinks she needs it but the last time was so harrowing not sure how it will help.

Really want to go home....

I know she is in the best hands now. Would be lovely to have her actually on the chart. Her stomach has NO fat.

And she has a cold. Honesty I think we might be cursed

<not that optimistic today>

takeaway2 Sun 13-Jan-13 17:30:14

I'm so sorry there doesn't seem to be any improvement. Did the dr say how long it might take the meds to kick in?

I recall earlier you saying she was helping herself to some food whilst at your inlaws? Croissants? Or something like that? Did she gag and throw up?

I have a friend whose daughter had vv severe reflux. Eventually diagnosed ftt and sent to consultants etc. she was on all the drugs available and through sheer perseverance the dd is now walking and mostly developmentally on track. She looked vvv skinny and not well when she had the reflux. She's now months or so...

ilovesprouts Sun 13-Jan-13 18:26:31

we are waiting to hear about the DDD study .

OpheliasWeepingWillow Sun 13-Jan-13 20:28:31

ilovesprouts is it this one? http://www.ddduk.org/

bamboozled Sun 13-Jan-13 21:06:02

I'm sorry it's not getting better yet. Thinking of you both x

ChaChaDigregorio Sun 13-Jan-13 21:25:00

My dd went from 50th percentile to 0.4 at about 4 months. By 10 months she was 7.4 kg. she's now 5 and 90th percentile for height, 50th for weight. Babies growth can be wierd... Hope this helps.

dikkertjedap Sun 13-Jan-13 21:26:26

Sorry to hear that it is still a struggle.

With your dd still being so young, she will have forgotten all about this time when a little older. Totally understand that you don't like tube feeding, but if it is what she needs do rest assured that she will not remember any of this. It is most harrowing for you.

Thinking of you.

narmada Sun 13-Jan-13 22:48:42

Oh you poor thing. So sorry no improvement. It could take a while for any oesophagitis to heal.

Nexium is being taken on empty stomach right? And then leaving 30 mins before milk/food?

Re milk allergy.... haven't you already rules that out by trying neocate for weeks on end? Thought I remembered some trials and tribulations over that.
Has she had any motility agents like erythromycin yet? When DS had antibios he was suddenly gobbling the milk down, twas a sight to behold.

Chin up Ophelias. It honestly will get better. Keep the faith ;)

fluffynurse Mon 14-Jan-13 07:38:54

Hi, it's almost 2am so I don't have a lot of time to chat right now, I can chime in with much more detail later, but I felt that I just had to share some information with you tonight. I stumbled across your story a few weeks ago after doing some google searching of my own and have been lurking since. I can relate to alot of what you say. I have a 3 year old daughter and twins.

All 3 of them have issues with low weight (around 5th percentile), my twins have it worse, as their height is also affected (they were born in the 50th percentile for height, and are now in the 10th percentile. My ODD finally walked at 23 months. She attends part time preschool and teacher finds her "intelligent and cooperative", etc.

All 3 of them get horrible open sores on their genitals and buttocks from milk ingestion. My odd also gets rashes from some wheat products. We've been having the runaround for years, nothing conclusive as to what it is, as it tested negative for allergies in my ODD.

My concerns are skyrocketing for the twins, as they are 18 months and girl twins cannot sit up, but she can roll. Boy twin can sit, but cannot get out of that position. I cry every day watching them lie on our floor immobile. They do smile, clap, give "hi-5", etc... I always suspected my twins have the same condition as my ODD, so while it bothered me, I was reassured that my daughter is relatively normal as she walks, goes to school, etc...

My Odd was fully breastfed for one year, twins were unable to latch (even odd took 3 months to latch but i was persistent), with twins I was unable to get them to latch but pumped my milk until my doctor wouldn't renew my domperidone lactating meds anymore at 8 months because of a potential safety issue with the meds... it broke my heart as I was convinced it was the breast milk helping my kids, since the rashes and developmental delays got worse after stopping breastfeeding.

We have been referred to a developmental doctor ,,, like you, doctors just look at me like I'm crazy when I go on about my theories that the rashes and the developmental delays are related and that the key seems to be the breastfeeding... i tell them how it seems my odd is better than my twins since she got more breastmilk, etc.... the docs tell me there is no link between the rahses, the developmental delays or the breast milk. the doctor also sat me down and said that she looked over my odd's file and my twins and says they are 2 different conditions (ie. that they may both have a milk intolerance of some sort, but that otherwise it's a different condition, shes thinking neuromuscular)...

... My general family doctor referred me to a pediatrician in September, whom I finally saw in November and again in December... I am awaiting to see a neurologist and a metabolics doctor... problem is I'm in canada, and I still haven't seen anybody and my twins are getting weaker, my husband and I are losing our minds, I've lost ten pounds from stress in the last month or so ... free health care isn't always great... all we've had done so far is a hearing test! sad ... anyway, we've been debating going to the usa to pay for treatment,

... I am a nurse in a hospital and I teach nursing part time... so I have access to health reserach databases.... and my husband works in computers but took some biology courses in university, so he helps me to search through them... it helps us deal with the powerlessness we feel in this situation... I can't tell you how many hundreds of times in the last 3.5 years I have searched all these symptoms and never came up with anything in the databases.... until now.

What happens to your daughter when she ingests neocate? I went out and bought some hoping it would help our twins as they are getting weaker and losing more weight... well imagine my devastation when it gave them the most nastiest rashses of all the foods ever!!!!! It's supposed to be hypoallergenic!... So I called up neocate Canada and talked to the nutritionist there and said that reactions to neocate are very rare, like she said they had "a few" reports of it in all of the United States, and none in Canada... My odd also got a smaller rash from it (nothing near as bad as the twins, both of them have bleeding sores on their genitals, we were in teh emergency room telling them this but all they did was prescribe hydrocortisone cream ). So I asked her if the other people that called them had any idea what was wrong with their kid. She stated unfortunately they didn't say, but we discussed more about my kid's rashes.. they get a rash from cow's milk, NOT from goat's milk (but it seems to stall their developement), NOT from nutramigen (it's what we're using now since we used it on our odd), and a massive rash from neocate.. they also drink alot of rice milk... we concluded that it could be something in the digestion of amino acids, since neocate is an amino acid based formula... other possibilities we mentioned were problems with sugars, fats or carbs, since we thought it was weird that the goats milk has protein and amino acids and doesn't cause rashes...

We have recently been assigned a dietician at the hospital while waiting further testing... so when we explained her the story and what the neocate rep. said, her first reaction when we told her about the rash was to ask us if we were sure we haven't changed diaper brands (same cloth diapers since twins' birth.... I had been through all this before, ruined a batch of cloth diapers by bleaching them when my odd started similar rashes when she weaned off breast and went on cows milk at one year old). ... she phoned me back later and mentioned that some people have an illness where they pee out their proteins instead of absorbing them which could cause weight loss, developmental delay, etc... She then said she would call the metabolics specialist office to see "where we are on the waiting list"... I can't take this waiting anymore, I'm going insane.

... so armed with that information, I began a vigorous search through databases... having the words metabolic... protein.... really helped to at least start to narrow my search.... I read through the descriptions of hundreds of different diseases, having to google so many words to find out their meaning (I am a nurse, but nonetheless this sure is very technical stuff as us nurses tend to deal more with the bedside aspects, but I could still get the basic principles behind what I was reading)...

Then I stumbled upon : LYSINURIC PROTEIN INTOLERANCE (LPI) . I began to shake as I read about this illness... my husband was in the washroom at the time but I ran in with the laptop to show it to him... he was skeptical at first (as we've gotten our hopes up so many times in the last 3.5 years of searching), but after reading more and more articles about this we believe our kids may have this (or an illness in this family of illnesses), as it explains so much about them...
I have copied and pasted some information about this illness, I wonder if this is something your doctors have checked your daughters for : If you'd like to PM me your contact info. I can send you some articles to further read if you'd like :

Below I pasted for you the intro of an article that summarizes this illness : It's so rare that is why nobody knows about it!!! Have your docs tested your daughter's lysine levels? This is a disease of lysine transport (it's an amino acid... hence why my kids react to the amino acid based formula... when you can't transport lysine, you end up peeing it out .. hence why the lysine levels are high in the urine tests despite being low in blood... In the urine, ornithine, and arginine would also be elevated as they are all part of the broken metabolic process... one of the key features of this disease is that symptoms are noted after stopping breastfeeding!!!!!!!!!!!!!!!!!!!!!!!!

Here is the info from the article :
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney.
LPI is caused by mutations in the SLC7A7 gene, which encodes the yþLAT-1 protein, the catalytic light chain subunit of a complex belonging to the
heterodimeric amino acid transporter family.
LPI was initially described in Finland, but has worldwide distribution.
Typically, symptoms begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive.
Hepatosplenomegaly, hematological anomalies, neurological involvement, including hyperammonemic coma are recurrent clinical features.
Two major complications, pulmonary alveolar proteinosis and renal disease are
increasingly observed in LPI patients. There is extreme variability in the clinical presentation even within individual families, frequently leading to misdiagnosis or delayed diagnosis. T
his condition is diagnosed by urine amino acids, showing markedly elevated excretion of lysine and other dibasic amino acids despite low plasma levels of lysine, ornithine, and arginine. The biochemical diagnosis can be uncertain, requiring confirmation by DNA testing.
So far, approximately 50 different mutations have been identified in the SLC7A7 gene in a group of 142 patients from 110 independent families. No genotype–phenotype correlation could be established.
Therapy requires a low protein diet, low-dose citrulline supplementation, nitrogen-scavenging compounds to prevent hyperammonemia,
lysine, and carnitine supplements. Supportive therapy is available for most complications with bronchoalveolar lavage being necessary for alveolar proteinosis.

I happened to already have an appointment for my twins regular vaccinations tomorrow, they have the flu and are not getting the vaccines, but I will be showing this to my doc in the hopes he can contact the children's hospital and get us seen !!!!

... also, low lysine foods (which are in turn high in arginine) will cause problems in people with lysinuric protein intolerance... ie, my odd also reacts to soy milk, mini wheats cereal... those foods are high in arginine!!!... hence why it's not an actual allergy... it's a disorder of amino acid transport....

Ok, I apologize for the lenght of my post, I hope it can be of assistance to you, keep us posted... thanks for reading my extremely lengthy post (writing this all out and sharing it basically feels like therapy for me at this point as our family has been stressed for so long) sad

good luck and prayers to you...

larrygrylls Mon 14-Jan-13 10:08:05

Hi Ophelia,

There is no harm in testing for rare conditions (although it is possible that she has already been tested for them in Asia). On the other hand, gagging strikes me as more psychological than physical. Why did the psychologist rule out psychological causes? Have you tried leaving her alone with food (croissants, ice cream etc) for a while when she is hungry. She may well associate her messing around with food with getting attention from you, which is a hard habit to break (not sure I have managed yet 2 years later!) for a concerned parent.

The good thing is that she must be a year now, so starting to cruise and pull herself upright. Generally digestion works a lot better in the upright position so, if reflux is the cause, it should slowly begin to right itself.

Best of luck.

tangledupinpoo Tue 15-Jan-13 12:34:44

Ophelias, sorry things are still tough. Narmada is right, whilst the meds will immediately get to work on the acid, the inflamed oesophagus will take a while (but only a short while hopefully - weeks rather than months) to heal.

You are seeing the Portland gastro again quite soon aren't you? I guess if things don't improve, he will do an endoscopy and biopsies to see what's going on?

Don't know if you've already had a pH probe test - I don't think you've mentioned it - no anaesthetic needed, just a little tube-like wire which goes through the nose and down throat like an NG tube but the end sits in the oesophagus. It measures the acidity over a 24 hour period then at the end you get a percentage of time during which the oesophagus was under pH4 acidity, and from there a grading of seriousness of reflux.

I know tube-feeding sounds hideous, and your DD was upset by it initially, but really, it does get better. They do get used to it (I remember my DS pulled his tube out 7 times in 3 days in hospital, but then only once the next week, then much more infrequently after that) and it takes so much of the pressure off voluntary feeding.

Just hoping to reassure in case you do have to go down that route for a bit.

I do so feel for you. Every description of your DD could be my DS at that age - really, everything. But your DD's earlier weight and height rule out my DS's condition. But part of my DS's condition involves severe reflux iyswim! (Helpfully, it also involves their appetite being set a bit wrong so they don't know that they need to eat a certain amount to nourish themselves confused !)

fluffynurse Thu 17-Jan-13 04:50:16

hi again,

Follow-up from my post from Sunday night : So i saw my family doctor on Monday, of course at first he was a little skeptical re. the literature i brought him about lysinuric protein intolerance, however he was open to the idea of reading it and getting back to me... he also agreed with me that regardless or not of weither he thought the twins had that condition or some other condition, that it was not acceptable to have us wait until mid-march for our next children's hospital appointment... so he said he would definitely call the hospital and advocate for us... as the twins weight and height have not changed in the last 6 months sad ... he did skim the articles while we were in this office, and he did check the twins growth charts, and sure enough he noticed that their decline in growth coincides with no longer having breast milk..!...
So then on Tuesday we got a call to see a developmental specialist (whom we were originally told would have an 18 month waiting list)... now we're going to see her this coming Monday!!!... Then an hour after that, we got a call and now on January 31st we are going to have a genetics consult!!... I can't believe this is all happening... it's not like I want them to have this severe metabolic disorder, but at this point since some of the damage can hopefully be revered, and since it beats not knowing what is wrong with them, I'll take it... Of course we don't know for sure if that's the illness they have, but I suspect if it's not that one, then it's another amino acid type disorder, since the twins reacted to an amino acid formula.
Hope things are ok on your end, hugs.

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